2021, Number 3
Macroglossia associated to Beckwith-Wiedemann syndrome. Clinical case report
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ABSTRACT
Beckwith-Wiedemann syndrome (BWS) is a multifactorial genetic origin pathology, referenced from 1963 to the present. Its main characteristics are gigantism, omphalocele, visceromegaly, visceral tumors, macroglossia in 90% (which interferes with ventilation and swallowing mechanics). The clinical diagnosis is the sum of major and minor criteria present in the patient, corroborated with different genetic tests. The clinical case is of a 14-month-old male patient, carrier of BWS associated with true macroglossia. He underwent surgery for a partial glossectomy (in the pediatric maxillofacial surgery service at UMAE Hospital General CMN La Raza). After surgery, lingual body volume is reduced by 30%, creating a favorable impact on the oral-lingual cavity relationship, increasing the hypopharyngeal and retrolingual spaces, reducing hypoxia risk due to obstruction, and interference in the phase of swallowing mechanics. We think that the best time to perform the reduction glossectomy will depend on the patient's general conditions and vital processes. The recommendation is to follow what clinical practice guidelines and hospital protocols state. BWS is a rare condition. However, it has multi-organ involvement. Macroglossia is present in more than 90% of all cases. Keyhole glossectomy is the surgical procedure choice to transversely and anteroposteriorly reduce the tongue body. The positive impact is in respiratory and digestive tracts habilitation. So is in the orofacial appearance and the competence of oral language acquisition.INTRODUCTION
Beckwith-Wiedemann syndrome (BWS) was described in 1963 and 1964.1 In 1963, Bruce Beckwith studied three patients associated with exophthalmos: hyperplasia of the kidneys, pancreas, and adrenal cytomegaly. It was recognized as a new syndrome at the Western Society for Pediatric Research conference in Los Angeles. In Germany, Hans Rudolf Wiedemann reported a case for the Journal of Genetic Humane the following year. It referred to a family entity, which together showed umbilical hernias and macroglossia. In 1969, Beckwith included histological findings and clinical presentation of the syndrome in his report for the Birth Defects publication.1-3
It is a pathology of genetic origin associated with complex alterations of the epigenetic mechanisms that alter imprinting.4 15% of cases have a family history. 1 to 2% are associated with translocations and duplications of the 11p15 gene.5,6 85% of cases are sporadic with normal karyotypes, of which 20% show somatic mosaicism due to uniparental paternal disomy.7,8 Multiple pregnancies achieved with assisted reproductive techniques, especially by in vitro fertilization or intracytoplasmic injection, increase BWS risk by 4 to 5 times.4,9
The reported incidence ranges from 1:14,000 to 1:12,000 live births, with an increased incidence of 1:4000 births with assisted reproduction techniques.4,10,11 The main alterations during gestational development are macrosomia (90%), polyhydramnios (50%), and prematurity (50%).4
Prenatal diagnosis: suspected of the inconsistency of uterine growth with gestational age. This diagnosis is confirmed by: a) obstetric ultrasound; b) prenatal chorionic villus sampling; c) and/or amniocentesis, especially if a genomic or cytogenetic abnormality has been identified. Without a known molecular defect, detection can be carried out by measuring maternal serum alpha-fetoprotein and a targeted ultrasound.12
The characteristics at birth are macrosomia, transient mild neonatal hypoglycemia (may be persistent and/or refractory), hyperthyroidism, hyperlipidemia, hypercholesterolemia, and polycythemia; hypercalciuria, in a smaller percentage. Accelerated growth is seen in later stages during childhood.4
Congenital malformations consist of metopic suture and large fontanel, prominent occiput, alterations of the cerebral fossa, coarse face, ear folds and furrows, prominent eyes, symptomatic true macroglossia, which hinders respiratory activity, conditioning obstructive apnea, and alteration in the first phase of digestion, favoring various degrees of malnutrition and impact on growth and development. In addition, anterior abdominal wall defects, omphalocele, umbilical hernia, diastasis recti, visceromegaly involving one or more organs,9,13 renal abnormalities, medullary dysplasia, nephrolithiasis, medullary sponge kidney, cysts and nephromegaly, hepatomegaly, pancreatic hyperplasia, large external genitalia, cryptorchidism, advanced bone age, medullary dysplasia, and Dandy-Walker malformation.1,4
In the cardiovascular field, cardiomegaly usually resolves without treatment or disappears spontaneously in addition to isolated cases of cardiomyopathy. People with BWS show physical and intellectual development within the average parameter. However, a small percentage may have some delayed neurological maturation.4 The diagnosis is clinical; it is the sum of major and minor criteria confirmed by genetic studies (karyotyping, FISH analysis for the 11p region, and studies to detect Uniparental Disomy [UPD], Methylation-Specific Multiplex Ligation-dependent Probe Amplification [MS-MLPA], DNA microarrays) (Table 1).9,14
Tumor predisposition to embryonic malignancies occurs mainly in the first eight years of life, with an estimated risk of 7.5% (4-21%). Wilms renal tumor is the most frequent (60%);15 other tumors associated with this syndrome are adrenal carcinoma, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma.16
Congenital macroglossia appears as a tongue that at rest protrudes beyond the alveolar ridge.17 It is due to an increased amount of tongue tissue, which results in a disproportionate lengthening and widening of the tongue towards the dentoalveolar structures (Table 2).18 Vogel classifies it as true or relative macroglossia according to its etiology. For his part, Myer classifies it as generalized or localized and subdivides it into congenital, inflammatory, traumatic, metabolic, and neoplastic.17-20
Tongue enlargement may cause malformations in the maxillofacial area and oral cavity (alterations in facial appearance, prognathism, anterior or posterior open bite, temporomandibular joint dysfunction, and dental proclination). This pathology also causes dysfunction of vital organ processes; ventilation and oxygenation are obstructed during wakefulness; in sleep, it worsens causing obstructive sleep apnea/hypopnea syndrome (OSAHS), apneas and hypoxia; conditions daytime sleepiness, cardiovascular, metabolic, growth disorders, and increased hyperactivity, attention deficit, and cognitive deficit.21-23 Tongue enlargement also hinders the digestion mechanism, interfering with the first phase of swallowing, causing different degrees of malnutrition, thus compromising the health and life of patients.24-26 To secure the airway, it is often necessary to place endotracheal cannulas via cervical stoma (tracheostomy) and feeding using gastrostomy tubes.27-30
Medical-surgical treatment is multidisciplinary and aims to solve clinical problems, prevent complications, and improve quality of life and life expectancy. The maxillofacial surgeon plays a vital role in treating macroglossia using tongue reduction and reconstruction techniques.29-31
Glossectomy, it is a surgical treatment to reduce the volume and size of the tongue by excision of excessive tissue and anatomical-functional reconstruction, which seeks to optimize the function of the lingual organ (improving the oral cavity-lingual relationship), permeabilize the oropharynx, increase the hypopharyngeal and retrolingual spaces to enable the air and the digestive tract while improving oxygenation processes, digestion, phonation, and physical appearance.31 The glossectomy techniques reported in the literature can be divided into two groups: midline glossectomy and peripheral glossectomy.32 They involve marginal V-incisions, elliptical, or in case of volume and length reduction, the keyhole incision combination is preferred. During surgery, it is important to carefully manipulate the tongue to avoid damaging the nerves, lingual arteries, and salivary caruncles.20,33
CLINICAL CASE
A 14-month-old diagnosed male patient with BWS + macroglossia. The patient is a GI product 42 SDG of normal evolution, born by cesarean section secondary to cephalopelvic disproportion; birth weight 5.2 kg, height 55 cm, Apgar 7/9. Omphalocele was diagnosed by abdominal ultrasound at five months gestation. He was operated on 20 days after being born of omphaloplasty. At two months of age, the patient was clinically diagnosed with BWS due to the presence of three major criteria: macrosomia, omphalocele, macroglossia; in addition, a minor criteria: visceromegaly, confirmed by protein alpha count 45.06 mg/mL and carcinoembryonic antigen: 5.55 ng/m, 46, XY karyotype normal. He was tracheostomized and gastrostomized at three months. The 6-month-old patient was referred to the Pediatric Maxillofacial Surgery Service (Hospital General La Raza) from the Hospital General de Zona 72, diagnosed with BWS with gastrostomy + tracheostomy, macroglossia, psychomotor retardation, and iron deficiency anemia. The diagnosis of true macroglossia was confirmed, and a study protocol and surgery program (glossectomy) were initiated. The patient had cutaneous eruptions. The dermatology area diagnosed miliaria rubra.2 Secondary traumatic purpura (Figure 1A). On physical examination, he was 9.3 kg weight and 75 cm height, awake and reactive; normal cephalic skull, without cephalic support; psychomotor retardation, wide bridge and nasal base, open mouth due to lingual prolapse; a lingual body that exceeds the alveolar process, with increased dimensions transversely and anteroposteriorly, and a short neck. Also, he had functional cervical stoma and cannula, normodynamic precordium, lung fields with respiratory roughness, hepato-splenomegaly, and a gastrostomy tube.
The patient was scheduled for elective surgery, anterior and anteroposterior keyhole reduction glossectomy and anatomical reconstruction, balanced general anesthesia, cervical stoma intubation, and non-invasive monitoring (Figure 1B).
The design of the procedure was marked with dye. Medial and lateral reins were placed using 3-0 silk (Figure 2A). Lidocaine was infiltrated with 2% epinephrine, and an incision was made with electro scalpel at 25 scales by different anatomical planes, taking care of and avoiding the ducts of salivary glands. The anteroposterior and transverse lingual reduction was obtained by excision of lingual tissue of approximately 45 × 32 mm. Subsequently, hemostasis was performed by electrocautery and then reconstruction of the lingual body facing the lateral stumps towards the midline and was maintained by suture by planes; horizontal muscular plane mattress stitches monocryl 3-0 and mucous vicryl 3-0 simple points. Finally, the procedure was terminated (Figure 2B and 2C). The patient was in the hospital for 48 hours. He was later discharged and given an appointment for an outpatient consultation.
The result of glossectomy and keyhole surgery managed to reduce the volume of the lingual body in the anteroposterior and transverse direction by 30%, which significantly improved the oral-lingual cavity relationship. The oropharynx was permeabilized, the hypopharyngeal and retrolingual space was increased, benefiting the competence to keep the tongue inside the oral bed reducing the risk of hypoxia due to obstruction. In addition, the first phase of swallowing mechanics was also enabled. With these benefits, it was planned to start oral feeding in the late postoperative period (after 72 hours) in addition to weaning from the cervical cannula (following the recommendations established in the Clinical Practice Guidelines). Unfortunately, the patient died of abdominal sepsis derived from colonization of the gastrostomy tube, so the follow-up was not possible.
DISCUSSION
BWS is a medical condition of low incidence and high impact on patients.1 It is characterized by metabolic, structural, and multiorgan dysfunctions with an increased risk of developing embryonal tumors; therefore, its treatment is multidisciplinary aimed at solving current clinical problems, anticipating complications, and providing timely treatment of added pathologies to improve quality of life and life expectancy.2,3,9,16 Macroglossia is present in more than 90% of the cases, causing disorders in ventilation-oxygenation and feeding among others,18 so it is common to ensure the airway through cervical stomas, use of supplemental oxygen, feeding by gastrostomy tube, clinical conditions that usually improve after the reduction and reconstruction of the lingual body (this through reducing glossectomy techniques). In addition, physical appearance, language acquisition, growth, and global development are positively influenced.20
The timing of the reduction glossectomy will depend on the patient's general health conditions, its degree of interference with vital processes, and language acquisition.17 For example, in patients with symptoms of mild airway obstruction, timely reduction of lingual body volume may prevent tracheostomy. On the other hand, for reconnection of gastrostomy and the weaning of the endotracheal cannula, adherence to the clinical practice guidelines and hospital protocols is suggested. As for monitoring, the Clinical Guidelines for the follow-up of patients with BWS divide them by age groups. From 1 to 4 years, from 4 to 10 years, from 10 years to the first stage of youth and adults. Physical examination is performed in all the groups, and specific actions derive from their risks.4,13
CONCLUSIONS
The BWS is a medical condition, of congenital origin, of low incidence, regularly treated in concentration hospitals (such as the UMAE HG "Dr. Gaudencio González Garza" of the Mexican Social Security Institute) BWS patients present different somatic-structural and functional alterations, which require multidisciplinary, pre-trans, and postnatal management to preserve their health and improve their quality of life. The maxillofacial surgeon plays a predominant role in surgical treatment by performing lingual body surgery and reducing its volume in the early stages of life, permeabilizing the airways and digestive tract, and avoiding severe complications that affect the development and growth of the patient. Subsequently, as indicated in the Clinical Practice Guide, follow-up will be carried out over the years, providing a solution to the clinical problems.
Therefore, reduction glossectomy techniques should be reviewed and learned by maxillofacial surgeons assigned to pediatric hospitals, mainly those that allow reducing the anterior two-thirds of the lingual body in a sagittal and transverse way thus achieving a safe and effective procedure. A timely glossectomy can prevent and/or maintain a tracheo-cervical cannula or gastrostomy tube for a long time, thus avoiding possible complications. If patients with glossectomy associated with BWS do not present neurological deficit alterations, they can acquire the speech function. However, they require timely assessment and assistance by a human communication specialist for the correct acquisition of oral language competence.
REFERENCES
Moreno Salgado R, García Delgado C, Cervantes Peredo A, García Morales L, Martínez Barrera LE, Peñaloza Espinosa R et al. Perfil clínico de una cohorte de pacientes con síndrome de Beckwith-Wiedemann atendidos en el Hospital Infantil de México Federico Gómez de 2007 a 2012. Bol Med Hosp Infant Mex. 2013; 70 (2): 166-173.
Nogueira F, Borsini E, Cambursano H, Marcela S, Dibur E, Franceschini C et al. Guías prácticas de diagnóstico y tratamiento del síndrome de apneas e hipopneas obstructivas del sueño: Actualización 2019: Sección Sueño, Oxigenoterapia y Tratamientos Crónicos Domiciliarios. Asociación Argentina de Medicina Respiratoria. Rev Am Med Respir. 2019; 19 (1): 59-90.
Pantoja Hernández CG, Mora Santos ME, Blasco Huelva A. Traqueotomía: Indicaciones, técnica y complicaciones. Intubación. En: Libro virtual de formación en ORL. 2014. pp. 1-13. Disponible en: https://seorl.net/PDF/Laringe%20arbor%20traqueo-bronquial/110%20-%20TRAQUEOTOMÍA%20INDICACIONES,%20TÉCNICA%20Y%20COMPLICACIONES.%20INTUBACIÓN.pdf
AFFILIATIONS
1 Departamento de Cirugía Maxilofacial Pediátrica, Unidad Médica de Alta Especialidad, Hospital General "Dr. Gaudencio González Garza" del Centro Médico Nacional La Raza, Instituto Mexicano del Seguro Social. CDMX, México.
2 Centro Interdisciplinario de Ciencias de la Salud Unidad Milpa Alta, Instituto Politécnico Nacional. CDMX, México.
3 Universidad Autónoma Metropolitana Unidad Xochimilco. CDMX, México.
CORRESPONDENCE
Jesús A Godínez Valdespino. E-mail: jesus.godinez@imss.gob.mxReceived: Diciembre 2020. Accepted: Mayo 2021.